Canonical Allele Identifier: CA1737343975
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479525_117479526delinsTG , CM000669.2:g.117479525_117479526delinsTG GRCh38
NC_000007.13:g.117119579_117119580delinsTG , CM000669.1:g.117119579_117119580delinsTG GRCh37
NC_000007.12:g.116906815_116906816delinsTG NCBI36
NG_016465.4:g.18742_18743delinsTG , LRG_663:g.18742_18743delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-360_-359delinsTG ENSP00000417012.1:n.-360_-359delinsTG
ENST00000673785.1:c.-406+13694_-406+13695delinsTG ENSP00000501235.1:n.-406+13694_-406+13695delinsTG
ENST00000446805.1:c.-360_-359delinsTG ENSP00000417012.1:n.-360_-359delinsTG
ENST00000546407.1:n.166+3717_166+3718delinsTG
XM_011515751.1:c.143+180_143+181delinsTG XP_011514053.1:n.143+180_143+181delinsTG
XM_011515752.1:c.143+180_143+181delinsTG XP_011514054.1:n.143+180_143+181delinsTG
XM_011515753.1:c.-360_-359delinsTG XP_011514055.1:n.-360_-359delinsTG
XM_011515754.1:c.-688_-687delinsTG XP_011514056.1:n.-688_-687delinsTG